Results 101 to 110 of about 5,748 (201)

Treatment of congenital ichthyosis with acitretin: a case report

, 2010
The authors assessed the clinical efficacy, tolerability and safety of acitretin in a patient with ichthyosis. A newborn infant with ichthyosis who presented at birth with collodion baby appearance, was treated with acitretin.
Cakmak, A., Cakmak, S., Shermatov, K., Baba, F., Karazeybek, H.   +4 more
core  

Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit. [PDF]

BMJ Case Rep, 2023
Dias JV, Cardoso K, Prado SN, Cavaco H.
europepmc   +1 more source

White Matter Diseases YES, Multiple Sclerosis NO, Sjogren - Larsson Syndrome: Another Differential Diagnosis of Multiple Sclerosis

Caspian Journal of Neurological Sciences, 2015
Sjogren-Larsson Syndrome (SLS) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation.
Karim Nikkhah, Ali Ghabeli-Juibary, Shadi Zamanian   +2 more
doaj  

PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis. [PDF]

Metabolites, 2022
Zeng F, Qin W, Huang F, Chang P.
europepmc   +1 more source

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. [PDF]

Genes (Basel), 2023
Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, Bouadjar B, Tantcheva-Poór I, Hellström Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, Stölzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J.   +20 more
europepmc   +1 more source

Congenital Ichthyosis [PDF]

JOJ Dermatology & Cosmetics, 2018
openaire   +1 more source

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis: Clinical Presentation. [PDF]

Cureus, 2022
Dumenigo A, Rusk A, Marathe K.
europepmc   +1 more source

Secukinumab responses vary across the spectrum of congenital ichthyosis in adults. [PDF]

Arch Dermatol Res, 2023
Lefferdink R, Rangel SM, Chima M, Ibler E, Pavel AB, Kim H, Wu B, Abu-Zayed H, Wu J, Jackson K, Singer G, Choate KA, Guttman-Yassky E, Paller AS.   +13 more
europepmc   +1 more source

Retrospective analysis of nail findings in the National Registry for Ichthyosis and Related Disorders database

Supplemental Figure LegendSupplemental Figure 1. Autosomal recessive congenital ichthyosis (Harlequin ichthyosis, ABCA12 genetic mutation) subject with parrot beak nails and pachyonychia of the fingernails. Supplemental Figure 2.
Curtis, K (via Mendeley Data)
core   +1 more source

Harlequin Ichtyosis: A Case Report

Gynecology Obstetrics & Reproductive Medicine, 2009
Harlequin ichthyosis is a severe and usually fatal congenital keratinization disorder. Although it has many characteristic findings on prenatal ultrasound such as a wide gaping mouth, intrauterine growth retardation, short limbs, joint contractures ...
Yetkin Karasu, Tuyan İlhan, Sinan Karadeniz, Orhan Gelişen   +3 more
doaj